GDF5

growth differentiation factor 5

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

Known Variants330 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18825264120:34,021,187A/G—likely benign
rs7905120620:34,021,239C/T—likely benign
rs5636691520:34,021,282A/G—benign
rs53502363020:34,021,318G/A—likely benign
rs55365593520:34,021,320A/G—likely benign
rs7361172020:34,021,372T/G—benign
rs15083304620:34,021,448C/G—conflicting classifications of pathogenicity
rs11483294820:34,021,514C/A—benign
rs56976131520:34,021,541C/T—uncertain significance
rs75344692420:34,021,710C/T—likely benign
rs120080337220:34,021,713G/A—likely benign
rs206245462320:34,021,721A/G—uncertain significance
rs75879123020:34,021,722C/A—likely benign
rs145809447720:34,021,725C/T—likely benign
rs251541796620:34,021,728C/T—likely benign
rs92257106520:34,021,730C/A—uncertain significance
rs76457387320:34,021,731G/A—likely benign
rs75210756520:34,021,737G/A—likely benign
rs14695183820:34,021,740C/T—likely benign
rs7431538920:34,021,742C/Tmissense variantpathogenic
rs74620424220:34,021,745A/G—uncertain significance
rs251541803620:34,021,746C/T—likely benign
rs75637892420:34,021,749C/T—likely benign
rs12190934820:34,021,752A/Cstop gainedpathogenic
rs90995012820:34,021,755C/T—likely benign
rs206245517820:34,021,761G/A—likely benign
rs138173872420:34,021,764G/T—uncertain significance
rs37123014320:34,021,765T/C—uncertain significance
rs251541817820:34,021,788G/A—likely benign
rs12190934720:34,021,789C/Tmissense variantpathogenic
rs214657822520:34,021,793T/A—conflicting classifications of pathogenicity
rs53003380020:34,021,805G/T—likely benign
rs74814110320:34,021,807G/C—uncertain significance
rs77318100920:34,021,814C/T—uncertain significance
rs88603987820:34,021,816C/Tmissense variantpathogenic
rs105635720720:34,021,827T/C—likely benign
rs120100246920:34,021,830T/C—likely benign
rs96998357320:34,021,834G/A—uncertain significance
rs206245593420:34,021,838C/A—pathogenic
rs77641522320:34,021,839G/C—conflicting classifications of pathogenicity
rs13929317420:34,021,842G/A—likely benign
rs206245617720:34,021,849G/A—uncertain significance
rs117347448520:34,021,851G/A—likely benign
rs54861306120:34,021,873G/C—uncertain significance
rs79472725420:34,021,879T/C—uncertain significance
rs214657844920:34,021,880T/G—uncertain significance
rs52919708220:34,021,881C/G—likely benign
rs251541849520:34,021,889C/T—uncertain significance
rs2893668320:34,021,891A/Gmissense variantpathogenic
rs214657849920:34,021,894T/A—no classification for the single variant
rs214657850920:34,021,898A/T—no classification for the single variant
rs7431538820:34,021,900C/Tmissense variantuncertain significance
rs90617697020:34,021,901G/A—likely pathogenic
rs14320239320:34,021,904A/G—likely benign
rs140232882320:34,021,906G/C—uncertain significance
rs12190935120:34,021,907G/Tmissense variantpathogenic
rs251541860020:34,021,908G/C—uncertain significance
rs88604295820:34,021,914G/T—likely pathogenic
rs75084762520:34,021,917C/T—likely benign
rs131378317220:34,021,919G/A—likely benign
rs251541864220:34,021,920C/T—likely benign
rs78033180020:34,021,929G/A—likely benign
rs214657859720:34,021,930T/G—uncertain significance
rs77839450820:34,021,941G/C—uncertain significance
rs142681543120:34,021,950G/T—likely benign
rs206245736120:34,021,952G/T—uncertain significance
rs89353951720:34,021,956G/A—likely benign
rs74814462220:34,021,963C/G—uncertain significance
rs77783783120:34,021,968G/A—likely benign
rs206245758320:34,021,980G/A—likely benign
rs143437181320:34,021,981T/G—uncertain significance
rs74743132520:34,021,989G/A—likely benign
rs15086773920:34,022,004C/A—uncertain significance
rs121689195020:34,022,009G/T—likely benign
rs135118694220:34,022,013G/A—likely benign
rs7431538720:34,022,014C/Tmissense variantpathogenic
rs124228392020:34,022,017C/T—uncertain significance
rs39751451920:34,022,018G/Amissense variantpathogenic
rs132065403720:34,022,021C/G—uncertain significance
rs37066864220:34,022,022C/G—uncertain significance
rs76808349520:34,022,041C/T—uncertain significance
rs37555967120:34,022,046G/C—likely benign
rs37373419020:34,022,047C/A—uncertain significance
rs251541902520:34,022,052G/A—likely benign
rs156873153920:34,022,071C/T—uncertain significance
rs39751466820:34,022,074C/Tmissense variantpathogenic
rs129143371320:34,022,075G/A—uncertain significance
rs12190935020:34,022,080C/Tmissense variantpathogenic
rs74695309320:34,022,083C/A—uncertain significance
rs13813015820:34,022,085C/A—benign
rs125604110620:34,022,089C/T—uncertain significance
rs123719234720:34,022,091G/A—likely benign
rs12190934920:34,022,095A/Cmissense variantpathogenic
rs74563084820:34,022,099A/T—uncertain significance
rs251541921320:34,022,101T/C—uncertain significance
rs156873160820:34,022,102C/A—uncertain significance
rs76955024220:34,022,106C/T—likely benign
rs77500594720:34,022,108C/T—uncertain significance
rs74890780720:34,022,109G/A—conflicting classifications of pathogenicity
rs76683857320:34,022,117C/G—uncertain significance

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.